A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547680



Internal ID15988403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148241781..148350106hg38UCSC Ensembl
Innerchr1:147714052..147822234hg19UCSC Ensembl
Innerchr1:146180676..146288858hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38108326
hg19108183
hg18108183
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv535n54
Supporting Variantsnssv723086
Samples
Known GenesMIR5087, NBPF10, NBPF8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547680
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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